[Review of 22 patients with 22q11.2 deletion syndrome: phenotype spectrum].
BACKGROUND
The 22q11.2 deletion syndrome is a contiguous gene deletion syndrome with an incidence rate of 1/4,000-6,000 live births. The most specific clinical features are: congenital conotruncal heart diseases, palate anomalies, hypocalcaemia, immunity and learning problems, and a characteristic facial phenotype. The objective of this work is to review the presenting phenotype and clinical features of children with 22q11.2 deletion syndrome as a guide for early diagnosis.


METHODS
Retrospective study of 22 patients with 22q11.2 deletion syndrome diagnosed at our hospital in the time period 2004-2007. Variables analyzed: incidence, sex, age at diagnosis, presenting phenotype, clinical features, positive family history, mortality and natural history.


RESULTS
From a total of 22 patients, 63 % were males, and the median age at diagnosis was of 4.5 years. Presenting pheno-type: congenital heart disease, milestones delay, velopharyngeal incompetence, hypocalcaemia, and mental retardation/psychiatric disturbances.


METHODS
congenital heart disease (84 %), velopharyngeal incompetence (47 %), milestones delay and learning disabilities (79 %). All of the deletions were de novo, except in one case where the deletion was present as mosaicism in the father. Three patients died, due to congenital heart disease.


CONCLUSIONS
Clinical expression is widely variable, although a characteristic phenotype exists. Patients with heart disease are diagnosed earlier than other patients with unusual presenting phenotype such as congenital dysphagia. It is important to recognize less common phenotypes at early ages in order to provide multidisciplinary monitoring and accurate genetic counselling.
Ballesta Martínez
M J
MJ
Unidad de Genética Médica, Servicio de Pediatría, Hospital Universitario Virgen de la Arrixaca, Murcia, España. maryballesta@yahoo.es
Guillén Navarro
E
E
López Expósito
I
I
Bafalliu Vidal
J A
JA
Domingo Jiménez
R
R
Guía Torrent
J M
JM
Robles Sánchez
F
F
Sánchez Solís de Querol
M
M
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D004062:DiGeorge Syndrome / Q000175:diagnosis* / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D010641:Phenotype; D012189:Retrospective Studies; D055815:Young Adult